This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: ALDH18A1
ALDH18A1 (aldehyde dehydrogenase 18 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Other
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IIIA, 219150
- Cutis laxa, autosomal dominant 3, 616603
- OMIM
- 138250
- Clinvar variants
- Variants in ALDH18A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Mitochondrial disorders
- DDG2P
- Intellectual disability
- Hyperammonaemia
- Corneal abnormalities
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Pneumothorax - familial
- Likely inborn error of metabolism
- Hereditary spastic paraplegia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)ALDH18A1 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Other
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)ALDH18A1 was created by rfoulger